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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKS6
Single nucleotide variant
(splice donor variant)
Nephronophthisis 16
GLikely pathogenic
ANKS6
(M539I)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(I296T)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(N218fs)
Duplication
(frameshift variant)
Nephronophthisis 16
GPathogenic
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